Esther de Graaff

Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17

Mike Hutton, Corinne Lendon, Patrizia Rizzu et al. · Nature · 1998 · 3.5K citations

Neurodegenerative Diseases, Mendelian Disorder, Genetic Disorder +8

A point mutation in the FMR-1 gene associated with fragile X mental retardation

Kristel De Boulle, Annemieke J.M.H. Verkerk, Edwin Reyniers et al. · Nature Genetics · 1993 · 619 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +10

<i>FBXO7</i> mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome

Alessio Di Fonzo, Marieke C. J. Dekker, P. Montagna et al. · Neurology · 2008 · 353 citations

Characterization and localization of the FMR-1 gene product associated with fragile X syndrome

Coleta Verheij, Cathy Bakker, Esther de Graaff et al. · Nature · 1993 · 340 citations · Full text

Fragile X Syndrome, Mendelian Disorder, Fmr-1 Gene Product +12

Requirement of signalling by receptor tyrosine kinase RET for the directed migration of enteric nervous system progenitor cells during mammalian embryogenesis

Dipa Natarajan, Camelia V. Marcos-Gutierrez, Vassilis Pachnis et al. · Development · 2002 · 320 citations